A 6-year-old girl with vaginal spotting who was diagnosed with perivascular epithelioid cell neoplasm after vaginoscopic resection

Abstract

Perivascular epithelioid cell neoplasm (PEComa) is a rare tumor with unknown malignant potential. We report a case of a 6-year-old child with history of brain tumor (pineoblastoma), who presented with intermittent vaginal spotting for 6 months. A vaginoscopy revealed a 1.5×1.0-cm mass on the vaginal wall. Pathological examination demonstrated that the tumor was composed of clear cells with organoid patterns, which were immunohistochemically positive for HMB-45 and TFE3, and negative for CK, HNF1-B, SOX10, Melan A, and S-100 protein. These findings were consistent with PEComa arising from the vagina. Regular follow-up with magnetic resonance imaging has shown no signs of recurrence. This case shows that early detection of PEComa and subsequent regular follow-ups are important because of the neoplasm's unknown malignant potential.

PEComa of the Uterus: A Rare Mesenchymal Tumor Displaying a ≪Snowstorm≫ Pattern at Magnetic Resonance Imaging

“…Case descriptions of this type have been increasing since 2008 and the majority (approximately 65%) involving the retroperitoneum, the kidneys and the genitourinary tract [ 1 2 3 ]. Other locations exist, such as liver, lung, pancreas, small bowel or colon but they are even much rarer [ 2 4 5 8 ]. Uterine PEComas are mainly located at the level of the corpus of the organ, the cervix being less often affected.…”

“…The tumor aggressiveness of PEComas remains ill-defined and their malignant potential is difficult to assess even histologically [ 3 4 6 7 8 ]. Many cases prove benign but the general trend is towards volume increase and malignant transformation [ 4 5 6 7 8 ]. In a series of 36 patients with malignant PEComa, 20% had metastases, especially in the lungs or liver, but also in the nodes or in the peritoneum [ 2 ].…”

“…The therapeutic strategy with respect to PEComas is poorly established because of the rarity of their occurrence [ 5 6 7 8 ]. For small tumors (less than 5 cm in diameter), according to the criteria of Folpe, observation over the long term can be proposed [ 4 ].…”

Malignant perivascular epithelioid tumor of the vagina: Report of a rare case with brief review of literature

“…Genitourinary system constitutes the most frequent site of occurrence of PEComa‐NOS, the commonest being uterus . Vaginal location of PEComa is an extremely rare phenomenon, having been described in only nine cases so far in the available literature . The clinic‐pathologic features of these previously reported cases of vaginal PEComa are summarized in Table .…”

Perivascular epithelioid tumours (PEComas) of the gynaecological tract

“…Three patients were aged <18 years. [80][81][82] Adnexa Six adnexal PEComas have been reported to date. 20 32 83-85 (table 1).…”